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Physiol. Genomics 32: 311-321, 2008. First published November 6, 2007; doi:10.1152/physiolgenomics.00116.2007
1094-8341/08 $8.00
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00116.2007v1
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Received 25 May 2007; accepted in final form 2 November 2007.
Physiological Genomics 32:311-321 (2008)
1094-8341/08 $8.00 © 2008 American Physiological Society

An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda

Ivana Barbaric 1, Mark J. Perry 2, T. Neil Dear 3, Alexandra Rodrigues Da Costa 2, Daniela Salopek 4, Ana Marusic 4, Tertius Hough 3, Sara Wells 3, A. Jackie Hunter 5, Michael Cheeseman 1,3 and Steve D. M. Brown 1

1 MRC Mammalian Genetics Unit, Harwell
2 Department of Anatomy, University of Bristol, Bristol
3 MRC Mary Lyon Centre, Harwell, United Kingdom
4 Department of Anatomy, Zagreb University School of Medicine, Zagreb, Croatia
5 GlaxoSmithKline Pharmaceuticals, New Frontiers Science Park, Harlow, United Kingdom

The mechanisms that regulate bone mass are important in a variety of complex diseases such as osteopenia and osteoporosis. Regulation of bone mass is a polygenic trait and is also influenced by various environmental and lifestyle factors, making analysis of the genetic basis difficult. As an effort toward identifying novel genes involved in regulation of bone mass, N-ethyl-N-nitrosourea (ENU) mutagenesis in mice has been utilized. Here we describe a mouse mutant termed Yoda that was identified in an ENU mutagenesis screen for dominantly acting mutations. Mice heterozygous for the Yoda mutation exhibit craniofacial abnormalities: shortened snouts, wider skulls, and deformed nasal bones, underlined by altered morphology of frontonasal sutures and failure of interfrontal suture to close. A major feature of the mutant is reduced bone mineral density. Homozygosity for the mutation results in embryonic lethality. Positional cloning of the locus identified a missense mutation in a highly conserved region of the ankyrin repeat domain 11 gene (Ankrd11). This gene has not been previously associated with bone metabolism and, thus, identifies a novel genetic regulator of bone homeostasis.

N-ethyl-N-nitrosourea; osteopenia; Ankrd11






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